Pathology in duchenne muscular dystrophy. Medical search. Frequent questions

Partial least squares discriminant analysis was applied to the spectral dataset acquired from blood serum of a mouse model of Duchenne muscular dystrophy ( mdx ) and control mice. (nature.com)
In this paper we constructed a simple mathematical model to investigate the role of the immune response in muscle degeneration and subsequent regeneration in the mdx mouse model of Duchenne muscular dystrophy. (hindawi.com)
We are using a zebrafish model of Duchenne muscular dystrophy (the dmd mutant strain) to investigate the developmental biology and epigenetics of DMD as well as to identify new drug therapies for DMD. (seattlechildrens.org)
Motor axonopathies in a mouse model of Duchenne muscular dystrophy. (umassmed.edu)

For example, our findings have shown that macrophages and eosinophils are key effector cells in the pathogenesis of Duchenne muscular dystrophy. (ucla.edu)
Inflammation is implicated in the pathogenesis of the dystrophinopathies despite the fact that most biopsies in patients with Duchenne muscular dystrophy do not show inflammatory cells. (medscape.com)
Abnormal activation of nuclear factor kappa B (NF-kappaB) probably plays an important role in the pathogenesis of Duchenne's muscular dystrophy (DMD). (molcells.org)
Knowledge of the fundamentals of muscle biopsy pathology is useful to promote understanding of the pathogenesis of many types of neuromuscular disorders and assists the non-pathologist clinician to understand reports that he or she receives for the muscle biopsies from his or her patients. (medscape.com)
We hope that the novel analyses of milestone-related disease progression assessed by time-to-event across the lifespan used in this study will provide a framework through which multiple therapeutics targeting various aspects of Duchenne muscular dystrophy pathogenesis can be assessed for long-term efficacy. (medscape.com)

Duchenne Muscular Dystrophy (DMD) is a specific type of muscular dystrophy characterized by muscle weakness and deterioration. (medpace.com)
Limb-girdle muscular dystrophies (LGMDs) is a peculiar type of muscular dystrophy characterized by weakness and wasting of the proximal upper and lower limb muscles, with progressive loss functionality. (bvsalud.org)

Dystrophin-deficient muscular dystrophies (dystrophinopathies) are the most common form of muscular dystrophy, with variable clinical phenotypes ranging from the severe Duchenne (DMD) to the milder Becker (BMD) forms. (nih.gov)
Duchenne muscular dystrophy (DMD) is the most common and severe form of muscular dystrophy and affects boys in infancy or early childhood. (nature.com)
Duchenne muscular dystrophy (DMD) is a progressive form of muscular dystrophy which typically affects male infants. (nature.com)

Peripheral neuromuscular conditions in which the CK concentration is always elevated from birth include Duchenne muscular dystrophy (MD) and Becker MD, as well as some congenital and limb-girdle MDs. (medscape.com)
While DMD is associated with the absence of any detectable dystrophin, a milder form, Becker muscular dystrophy (BMD), is associated with a reduced amount or abnormal structure of dystrophin. (medpace.com)
Two types of muscular dystrophy include Duchenne Muscular Dystrophy and Becker Muscular Dystrophy. (medicalhealthtests.com)
Between the two dystrophies: Duchenne and Becker, Duchenne is the worse of the two situations. (medicalhealthtests.com)
Becker muscular dystrophy testing is conducted in much the same way and most of the diagnostic criteria between DMD and BMD are the same because of the similar pathophysiology of the disease. (medicalhealthtests.com)
The therapeutic strategies are usually applied first to Duchenne muscular dystrophy with the thought that benefits can be extrapolated to Becker muscular dystrophy. (medscape.com)
One challenge is to know if a young boy with elevated serum CK levels is likely to have Duchenne versus Becker muscular dystrophy and if corticosteroids should be initiated in either situation. (medscape.com)
Biopsy protein studies in young boys are thought to provide further evidence to help predict Duchenne versus Becker muscular dystrophy phenotype but that has not been conclusively demonstrated and again, there are a small proportion of outliers. (medscape.com)

2023, Muscular Dystrophy Association Inc. All rights reserved. (mda.org)

Accuracy of a machine learning muscle MRI-based tool for the diagnosis of muscular dystrophies. (cdc.gov)
There are occasional examples of the pathology of other disorders that are in the differential diagnosis of some of these entities in order to illustrate their contrasting pathologic features. (medscape.com)

Current understanding of molecular pathology and treatment of cardiomyopathy in duchenne muscular dystrophy. (ox.ac.uk)

This review consolidates what is known regarding molecular pathology of the DMD heart, specifically focusing on intracellular Ca2+, nNOS and mitochondrial dysregulation. (ox.ac.uk)
In a recent paper in the journal Molecular & Cellular Proteomics , Tirsa L.E. van Westering and researchers at the University of Oxford used mass spectrometry to identify differential protein expression in muscles at three different ages (representing the different stages of DMD pathology) from two strains of mice with genetically altered DMD and one strain of unaltered mice (control). (asbmb.org)
While the primary genetic insult in DMD is well described, many details of the molecular and cellular pathologies that follow dystrophin loss are incompletely understood. (ox.ac.uk)
Covering all areas of nonneoplastic pediatric pathology, it incorporates the most recent clinical, pathologic, and molecular knowledge in this challenging field to provide a comprehensive overview of all key issues relevant to today's practice. (livres-medicaux.com)
however, the complex molecular pathology of this disorder is now being unravelled. (ox.ac.uk)
We use gene therapy technologies to target molecular defects in pre-clinical models of rare neuromuscular diseases such as Duchenne muscular dystrophy (DMD), Oculopharyngeal muscular dystrophy (OPMD) and Facioscapulohumeral muscular dystrophy (FSHD). (royalholloway.ac.uk)
My doctoral work focuses on understanding the progression of Duchenne muscular dystrophy, and in identifying molecular pathways that may be amenable to therapeutic interventions. (illinoisstate.edu)

Conditions in which CK is mildly elevated or normal include spinal muscular atrophy, neuropathies, and congenital myopathies. (medscape.com)

Duchenne muscular dystrophy (DMD) is a genetic muscle disorder caused by mutations in the Dmd gene resulting in the loss of the protein dystrophin. (ox.ac.uk)
Duchenne muscular dystrophy (DMD) is a muscle wasting disease caused by mutations in the DMD gene, which encodes dystrophin. (seattlechildrens.org)
Mutations in the dmd gene are responsible for the Duchenne muscular dystrophy (DMD) disease [ 1 ], in which muscular degeneration is also associated with cognitive defects likely due to loss of the smallest product of the dmd gene, the Dp71 dystrophin isoform [ 2 ]. (biomedcentral.com)
Duchenne muscular dystrophy (DMD) is a pediatric, X-linked, progressive muscle-wasting disorder caused by loss of function mutations affecting the gene encoding the dystrophin protein. (ox.ac.uk)
Antisense oligonucleotide (AO)-mediated exon-skipping therapeutics shows great promise in correcting frame-disrupting mutations in the DMD gene for Duchenne muscular dystrophy. (oregonstate.edu)
Exon skipping is capable of correcting frame-shift and nonsense mutations of Duchenne Muscular Dystrophy (DMD). (oregonstate.edu)
The X-linked muscle-wasting disease Duchenne muscular dystrophy is caused by mutations in the gene encoding dystrophin. (ox.ac.uk)
Mutations in many components of the dystrophin protein complex cause other forms of autosomally inherited muscular dystrophy, indicating the importance of this complex in normal muscle function. (ox.ac.uk)
Duchenne muscular dystrophy (DMD) is a hereditary disorder caused by dystrophin mutations characterized by chronic inflammation and severe muscle wasting. (scienceexhibitions.org)

Duchenne muscular dystrophy (DMD) is a life-threatening neuromuscular disease caused by the lack of dystrophin, resulting in progressive muscle wasting and locomotor dysfunctions. (scite.ai)
Duchenne muscular dystrophy (DMD ) is an X-linked recessive neuromuscular disease diagnosed in childhood, with an incidence of 1/3500 living male births (1). (medicaljournals.se)

By understanding how these early developmental defects initiate and how they drive DMD pathology, we may be better positioned to identify and utilize DMD therapies. (seattlechildrens.org)
OXFORD, U.K.- Summit Therapeutics plc , a drug discovery and development company advancing therapies for Duchenne muscular dystrophy (DMD) and C. difficile infection, recently announced the publication of preclinical data on the disease-modifying potential of utrophin modulation in the treatment of DMD. (drugdiscoverynews.com)

Clinical Development on the Frontier: Gene Therapy for Duchenne Muscular Dystrophy. (cdc.gov)
Afterwards, I joined the gene therapy laboratory at Royal Holloway, and since then I contributed to the development of novel gene therapy agents and antisense therapeutics for the treatment of muscular dystrophies and other muscle conditions. (royalholloway.ac.uk)
I collaborated on the development of a gene therapy AAV vector for Oculopharyngeal Muscular Dystrophy (OPMD), a rare muscle disease. (royalholloway.ac.uk)
Pharmacological agents that can improve the dystrophic pathology and that can have additive or synergistic effects when combined with gene therapy applications. (royalholloway.ac.uk)

Skeletal muscle biopsy showed mild nonspecific changes, but her family history was significant for a son who died of Duchenne muscular dystrophy (DMD). (nih.gov)
Duchenne muscular dystrophy (DMD) is characterized by rapid wasting of skeletal muscle. (frontiersin.org)
Lastly, inhibition of the strong autophagic program observed in adolescent mdx male mice via administration of the autophagy inhibitor leupeptin did not improve skeletal muscle pathology. (frontiersin.org)
Muscular dystrophies are a family of genetic disorders manifesting primarily by the progressive wasting of skeletal muscle. (frontiersin.org)
Skeletal muscle pathology in affected dogs is similar to what has been described in people with DMD and includes myocyte degeneration, necrosis, and regeneration, fibrofatty infiltration, lymphohistiocytic inflammation, and mineralization. (auburn.edu)
The Maves lab investigates skeletal muscle and heart development, with the goal of making discoveries that lead to new treatments for muscular dystrophy and heart disorders. (seattlechildrens.org)
This project is aimed at an ultimate goal of manipulating skeletal muscle fiber type as a treatment for muscular dystrophy. (seattlechildrens.org)

The X chromosome-linked mutation resulted in mice ( mdx mice) with high serum levels of muscle enzymes and with histological lesions comparable to those seen in human muscular dystrophy. (hindawi.com)

Duchenne's muscular dystrophy involves a defective transsulfuration pathway activity. (cornell.edu)

The remainder of this article addresses the key clinical characteristics and pathologic findings on muscle biopsy of selected examples of disorders from 4 different categories of muscle disease: immune-mediated (inflammatory) myopathies, muscular dystrophies, metabolic myopathies, and congenital myopathies. (medscape.com)

Fukuyama congenital muscular dystrophy (FCMD) is one of the congenital muscular dystrophies, showing central nervous system (CNS) and ocular lesions, in addition to muscular dystrophy. (intechopen.com)
Organomegaly, connective-tissue and ocular pathology, and central nervous system dysfunction may result. (medscape.com)

however, numerous proteins were differentially expressed between DMD mice and unaltered mice at each of three stages of DMD pathology. (asbmb.org)
We thus conclude that curcumin is effective in the therapy of muscular dystrophy in mdx mice, and that the mechanism may involve inhibition of NF-kappaB activity. (molcells.org)

Duchenne muscular dystrophy, or DMD, is characterized by progressive muscle degeneration and weakness due to the alterations of the dystrophin protein that keeps muscles intact. (asbmb.org)
however, it is important to note that once the test results come back as positive, a patient has to be mentally prepared for the consequences of the disease that include, massive muscular degeneration causing trouble in movement, breathing, digestion, heart function, and eventually death. (medicalhealthtests.com)
Dystrophic nematodes model known Duchenne muscular dystrophy pathology with a high degree of genotypic and phenotypic faithfulness which, coupled with its great experimental amenability, makes dystrophic worms a useful vehicle to understand this disorder and develop new therapeutics able to slow degeneration and improve the lives of Duchenne muscular dystrophy patients. (illinoisstate.edu)

It briefly discusses the current treatment options and then elaborates on the preclinical therapeutic approaches currently under development to restore dystrophin thereby improving pathology, with a focus on the heart. (ox.ac.uk)
Recent studies, including work from our lab, now create an opportunity to directly test whether fiber-type modulation is a viable therapeutic approach for muscular dystrophies. (seattlechildrens.org)
This work showed that the experimental manipulation of the balance between the functions of M1 and M2 macrophages can affect the severity of muscular dystrophy, suggesting that manipulation of macrophage phenotype in vivo may have potential therapeutic value for the treatment of the disease. (ucla.edu)
These datasets have enabled (1) the determination of gene expression changes associated with dystrophic pathology, (2) identification of differentially expressed genes that are restored towards wild-type levels after therapeutic dystrophin rescue, (3) investigation of the correlation between mRNA and protein expression (determined by parallel mass spectrometry proteomics analysis), and (4) prediction of pathology associated miRNA-target interactions. (ox.ac.uk)

Duchenne muscular dystrophy is one of the most common dystrophinopathies known. (who.int)

Practice patterns related to prostate cancer grading: results of a 2019 Genitourinary Pathology Society clinician survey. (cornell.edu)

10 Muscle biopsies can differentiate muscular dystrophies from other muscle diseases, 11 however biopsy examinations can be both expensive and invasive. (nature.com)

Dystrophin deficiency thus, leads to destruction of muscle fibres and progressive muscular weakness. (who.int)

Lawler, J.M. Exacerbation of pathology by oxidative stress in respiratory and locomotor muscles with Duchenne muscular dystrophy. (tamu.edu)
By having worms burrow in three dimensions through agar, rather than crawl around on an agar plate as is typically done in the lab, muscular exertion is increased and dystrophin mutants show locomotor defects. (illinoisstate.edu)

Respiratory pathology in the Optn-/- mouse model of Amyotrophic Lateral Sclerosis. (umassmed.edu)

These treatments do not address the underlying pathology of DMD, and heavy use of corticosteroids comes with a raft of undesirable side effects, including weight gain, stunted growth, behavioral changes, osteoporosis and bone fractures. (managedhealthcareexecutive.com)
The one proven medical treatment for Duchenne muscular dystrophy is corticosteroids, which are known to help to protect muscle mass and function and ameliorate some of the secondary aspects of this disease, thus improving quality of life. (medscape.com)
Corticosteroids have been used for more than 40 years with some success to treat patients with Duchenne muscular dystrophy. (medscape.com)
These associated favorable measures in Duchenne muscular dystrophy certainly implicate the positive benefits of corticosteroids in improving quality of life and reducing morbidity and mortality. (medscape.com)

Sarepta Therapeutics and Roche are competing with Pfizer to develop the first gene replacement therapy for Duchenne muscular dystrophy. (managedhealthcareexecutive.com)
This study was designed to generate a complete description of gene expression changes associated with dystrophic pathology and the response to an experimental therapy which restores dystrophin protein function. (ox.ac.uk)
Previous studies have provided moderate-quality evidence that glucocorticoid therapy improves muscle strength or function or both for up to 2 years in patients with Duchenne muscular dystrophy, but there are also clinically significant adverse effects of long-term glucocorticoid treatment. (medscape.com)

Duchenne muscular dystrophy (DMD) is a lethal, X-chromosome muscle wasting disease affecting approximately one in 3,500 boys [ 1 , 2 ]. (hindawi.com)

ReveraGen BioPharma Inc, a privately held corporation, today announced that the U.S. Food and Drug Administration (FDA) has granted Fast Track designation for vamorolone (VBP15) for the treatment of patients with Duchenne muscular dystrophy . (mda.org)
Crude lysosomal pellets were prepared from skin fibroblasts grown from patients having Duchenne muscular dystrophy, and from normal controls. (utmb.edu)
This study illustrates a large variability in upper limb function in adult patients with Duchenne muscular dystrophy, and identifies muscle strength and range of motion as factors strongly associated with upper limb function. (medicaljournals.se)
These results suggest that preserving muscle strength and range of motion in Duchenne patients might be relevant for a better outcome of distal motor function of the upper limb when adult. (medicaljournals.se)
Cognitive deficit has been identified in one third of patients affected by Duchenne Muscular Dystrophy, primarily attributed to loss of the short Dp71 dystrophin, the major brain dystrophin isoform. (biomedcentral.com)
Notably SMT022357 treatment resulted in reduced fibrosis in the diaphragm, a significant observation due to the disease pathology in the diaphragm of the mdx model closely resembling that of DMD patients. (drugdiscoverynews.com)
NEW YORK (Reuters Health) - Long-term glucocorticoid treatment is associated with slower progression and reduced risk of death in patients with Duchenne muscular dystrophy, according to results from the Cooperative International Neuromuscular Research Group (CINRG). (medscape.com)
Our future plans are to expand the CINRG Duchenne Natural History Study (increased numbers of patients with longer-term follow-up), which will yield additional data on the effect of other treatment standards, alone or in combination, that are articulated in internationally recommended care considerations guidelines," the researchers note. (medscape.com)

Duchenne muscular dystrophy (DMD) is caused by a lack of dystrophin protein. (scite.ai)
Protein profiles offer new insights into Duchenne muscular dystrophy. (asbmb.org)
These results suggest that the reduction of Dp71 protein in the Duchenne muscular dystrophy neurons leads to alterations in SERCA2 and to elevated cytosolic Ca 2+ concentration with consequent potential disruption of the dystrophin proteins and Dp71-associated proteins. (biomedcentral.com)
This review discusses the role of the dystrophin complex and protein family in muscle and describes the physiological processes that are affected in Duchenne muscular dystrophy. (ox.ac.uk)
Upon modulation of utrophin protein with the second-generation utrophin modulator SMT022357, in-vivo models of DMD showed significantly improved muscle stability and a marked reduction of the muscle regeneration, necrosis and fibrosis that are at the core of DMD pathology. (drugdiscoverynews.com)

Duchenne muscular dystrophy (DMD) is a genetic disease that results in the death of affected boys by early adulthood. (hindawi.com)
Muscular dystrophy is a disease in which the muscles of the body degenerate progressively. (medicalhealthtests.com)
Duchenne muscular dystrophy, Kaposi's sarcoma, Christmas disease, and hundreds of others were redolent of medical history, exotic passports to the world of medicine. (nursingcenter.com)
His primary areas of investigation include Magnetic resonance imaging, Internal medicine, Pathology, Central nervous system disease and Endocrinology. (research.com)
Duchenne muscular dystrophy (DMD) is an x-linked degenerative disease that affects one out of every 3,500 males. (illinoisstate.edu)

NF-κB continues to be implicated in pathology because blockade of the pathway through pharmacological or hereditary approaches improves muscles histology decreases pro-inflammatory gene appearance and ameliorates harm (8-12). (scienceexhibitions.org)

Duchenne is tested for with a DNA carrier testing for Duchenne Muscular Dystrophy. (medicalhealthtests.com)
Carrier testing for Duchenne muscular dystrophy is performed with a DNA test and confirmation of a creatine kinase elevated level. (medicalhealthtests.com)
Duchenne muscular dystrophy DNA carrier testing is a test that is done by taking a tissue sample or a sample of bodily fluids from which DNA can be extracted. (medicalhealthtests.com)

Duchenne Muscular Dystrophy (DMD) is a genetic disorder causing progressive muscle weakness due to an inability to produce functional dystrophin. (aurorascientific.com)
Limb-girdle muscular dystrophies (LGMDs) are neuromuscular and genetic disorders that progress with weakness and damage of the proximal muscles, developing with loss of functionality. (bvsalud.org)

our work focuses on developing new genetic treatments for muscular dystrophy and muscle diseases. (royalholloway.ac.uk)
The Gene Medicine Laboratory for Rare Diseases is focused on finding new treatments for muscle pathologies. (royalholloway.ac.uk)

Contribution of oxidative stress to pathology in diaphragm and limb muscles with dystrophin deficiency. (tamu.edu)

Both electrophysiological and magnetic resonance studies have shown that functional alterations in the subcortical structures, cerebellum, and cortex are present in this pathology. (bvsalud.org)

Morpholino oligos (Morpholinos) are widely used tools for knocking down gene expression and are currently in a clinical trial for treatment of Duchene muscular dystrophy. (oregonstate.edu)
Fragile X syndrome: clinical presentation, pathology and treatment. (cdc.gov)

Duchenne muscular dystrophy (DMD) is a progressive, X-linked genetic disorder primarily affecting boys. (managedhealthcareexecutive.com)

Anatomy17

Organisms6

Diseases27

Chemicals and Drugs36

Analytical, Diagnostic and Therapeutic Techniques and Equipment24

Psychiatry and Psychology5

Phenomena and Processes32

Disciplines and Occupations3

Anthropology, Education, Sociology and Social Phenomena1

Information Science2

Health Care2

Model of Duchenne muscular4

Pathogenesis5

Type of muscular dystrophy characterized2

Form of muscular dystrophy3

Becker8

20231

Diagnosis2

Cardiomyopathy1

Molecular7

Spinal Muscula1

Mutations9

Neuromuscular disease2

Therapies2

Gene therapy4

Skeletal muscle7

Mutation1

Duchenne's1

Congenital myopathies1

Ocular2

Mice2

Degeneration3

Therapeutic4

Dystrophinopathies1

20191

Biopsies1

Progressive muscular1

Locomotor2

Respiratory1

Corticosteroids4

Therapy3

Chromosome1

Patients8

Protein5

Disease5

Inflammatory1

Carrier3

Weakness2

Treatments2

Diaphragm1

Alterations1

Treatment2

Primarily1